Mitochondrial diseases

Disease Term Disease ID Gene Symbol References
Mitochondrial Diseases C0751651 SLC25A4
ATP5F1D 29478781
BCS1L 27604308
COX4I1
COX6B1 27604308
COX10 27604308
COX15 27604308
GFER 28812649
MPV17 18818194
ATP6
COX2
ND4
ND5
TRNE
TRNK
TRNL1 15372523, 11085913
TRNL2
TRNT 29760464, 30236074, 22638997, 8511015
NDUFA1 27604308, 21596602
NDUFA2 27604308
NDUFA6
NDUFA8 15576045
NDUFA10 27604308
NDUFS1 27604308
NDUFS2 27604308
NDUFS3 27604308
NDUFV1 27604308
NDUFS4 27604308
NDUFS5
NDUFS6 27604308
NDUFS8 27604308
NDUFV3
NOS2 16157314
OPA1 28812649
OXA1L 30201738
POLG 28812649, 18716558
SCO1 17182746, 27604308
SDHB 27604308, 22972948
SDHC 27604308
SDHD 27604308
SOD2 9917329
SPG7 28812649
SURF1 27604308
TOP3A 29290614
UQCRB 23454382
NOL3 19139834
SCO2 27604308
LRPPRC 27604308
FASTKD2 27604308
NDUFAF3 27604308
NDUFAF4 27604308
RRM2B 28812649
YARS2 28812649
NDUFA13 25901006
NDUFAF1 27604308
TACO1 27604308
TTC19 27604308
TRMT10C 27132592
SDHAF2 27604308
TMEM70 27604308
RMND1 27412952
FOXRED1 20818383, 27604308
TMEM126B 27374774
TWNK 28812649
COQ8A
NDUFAF5 27604308, 18940309
NUBPL 20818383, 27604308
GFM2 29075935
COX4I2 22592081
ATPAF2 27604308, 19933271
SMDT1
MGME1 23313956
NDUFA11 27604308
NDUFS7 27604308
SDHAF1 27604308